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Judith Fischer

Showing results (61-70 of 174) with videos related to

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Scientific Reports|May 26, 2016
HPTLC-aptastaining - Innovative protein detection system for high-performance thin-layer chromatographyLena Morschheuser, Hauke Wessels, Christina Pille, et al.
Neurology|March 22, 2015
Genetic dosage compensation via co-occurrence of PMP22 duplication and PMP22 deletionNina Hirt, Katja Eggermann, Sonja Hyrenbach, et al.
The Journal of Investigative Dermatology|November 6, 2009
Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patientsAnders Vahlquist, Anette Bygum, Agneta Gånemo, et al.
European Journal of Dermatology : EJD|January 26, 2002
Physicians' response to a letter to confirm diagnosis in a genetic study of psoriasisEmmanuel Mahé, Morad Lahfa, Samira Mansouri, et al.
Frontiers in Neurology|January 29, 2019
Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel <i>VPS13A</i> MutationJuliane Weber, Lars Frings, Michel Rijntjes, et al.
Human Molecular Genetics|January 27, 2006
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3Caroline Lefèvre, Bakar Bouadjar, Véronique Ferrand, et al.
Journal of the American Academy of Dermatology|April 5, 2021
Three novel pathogenic NEK9 variants in patients with nevus comedonicus: A case seriesHazem A Juratli, Sabine Jägle, Martin Theiler, et al.
Pediatric Dermatology|January 20, 2023
Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab familiesMingfeng Li, Judith Fischer, Sylvia Safwat, et al.
World Journal of Gastroenterology|September 30, 2006
Reduced expression of Ca2+-regulating proteins in the upper gastrointestinal tract of patients with achalasiaHarald Fischer, Judith Fischer, Peter Boknik, et al.
JAMA Dermatology|September 12, 2014
The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3' end of KRT10: from disease to a syndromeIris Spoerri, Michela Brena, Julie De Mesmaeker, et al.
Pageof 18

Showing results (61-70 of 174) with videos related to

Sort By:
Pageof 18
Scientific Reports|May 26, 2016
HPTLC-aptastaining - Innovative protein detection system for high-performance thin-layer chromatographyLena Morschheuser, Hauke Wessels, Christina Pille, et al.
Neurology|March 22, 2015
Genetic dosage compensation via co-occurrence of PMP22 duplication and PMP22 deletionNina Hirt, Katja Eggermann, Sonja Hyrenbach, et al.
The Journal of Investigative Dermatology|November 6, 2009
Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patientsAnders Vahlquist, Anette Bygum, Agneta Gånemo, et al.
European Journal of Dermatology : EJD|January 26, 2002
Physicians' response to a letter to confirm diagnosis in a genetic study of psoriasisEmmanuel Mahé, Morad Lahfa, Samira Mansouri, et al.
Frontiers in Neurology|January 29, 2019
Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel <i>VPS13A</i> MutationJuliane Weber, Lars Frings, Michel Rijntjes, et al.
Human Molecular Genetics|January 27, 2006
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3Caroline Lefèvre, Bakar Bouadjar, Véronique Ferrand, et al.
Journal of the American Academy of Dermatology|April 5, 2021
Three novel pathogenic NEK9 variants in patients with nevus comedonicus: A case seriesHazem A Juratli, Sabine Jägle, Martin Theiler, et al.
Pediatric Dermatology|January 20, 2023
Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab familiesMingfeng Li, Judith Fischer, Sylvia Safwat, et al.
World Journal of Gastroenterology|September 30, 2006
Reduced expression of Ca2+-regulating proteins in the upper gastrointestinal tract of patients with achalasiaHarald Fischer, Judith Fischer, Peter Boknik, et al.
JAMA Dermatology|September 12, 2014
The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3' end of KRT10: from disease to a syndromeIris Spoerri, Michela Brena, Julie De Mesmaeker, et al.
Pageof 18